A novel <i>NPR2</i> mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux-Reference-Cited by-同舟云学术

A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux

Author:

Amano Naoko¹²,Kitoh Hiroshi³,Narumi Satoshi⁴,Nishimura Gen⁵,Hasegawa Tomonobu¹

Affiliation:

1. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan

2. Department of Pediatrics, Saitama City Hospital, Saitama, Japan

3. Department of Orthopedics Surgery, Aichi Children’s Health and Medical Center, Obu, Japan

4. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan

5. Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan

Publisher

Japanese Society for Pediatric Endocrinology

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

Reference14 articles.

1. 1. Maroteaux, P, Martinelli, B, Campailla, E. Acromesomelic dwarfism. Presse Med 1971;79: 1839–42 (In French).

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